LEFTY2
Left-Right Determination Factor 2
Gene Information Card
| Symbol | LEFTY2 |
|---|---|
| Full Name | Left-right determination factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 7044 ncbi.nlm.nih.gov/gene/7044 |
| Ensembl ID | ENSG00000143768 |
| UniProt ID | O00292 |
| OMIM ID | 601877 |
| HGNC ID | 6554 |
| Aliases | LEFTYB, LEFTB, EBAF, TGFB4 |
Description
LEFTY2 encodes a member of the transforming growth factor beta (TGFB) superfamily. This secreted ligand acts as an antagonist of Nodal signaling and is critical for establishing left-right asymmetry during embryonic development. It also plays roles in endometrial function and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Left-right axis malformations (e.g., heterotaxy, situs inversus) | Loss of LEFTY2 function disrupts Nodal signaling gradient, impairing left-right patterning | OMIM, ClinVar |
| Infertility (endometrial defects) | Altered LEFTY2 expression affects endometrial receptivity | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Endometrium | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hESC (H1) | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.328C>T (p.Arg110*) | Nonsense | Rare | Loss of function; associated with laterality defects |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with heterotaxy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing Nodal antagonism.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity | • TGF-beta receptor binding |
| • negative regulation of Nodal signaling pathway | • left/right axis specification |
Pathways
• Nodal signaling pathway
• TGF-beta signaling pathway
Protein Summary
LEFTY2 is a secreted protein of the TGFB superfamily that functions as a Nodal antagonist. It is synthesized as a preproprotein and cleaved to form a mature ligand. The protein is involved in embryonic left-right patterning and endometrial homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEFTY2 Knockout HEK293 Cell Line | EDJ-KQ388 | Human | 7044 | Details Get a Quote |
| LEFTY2 Knockout HeLa Cell Line | EDJ-KQ54649 | Human | 7044 | Details Get a Quote |
| LEFTY2 Knockout A-549 Cell Line | EDJ-KQ63129 | Human | 7044 | Details Get a Quote |
| LEFTY2 Knockout HCT 116 Cell Line | EDJ-KQ71603 | Human | 7044 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
